Variant report

Variant	rs1723484
Chromosome Location	chr2:47399975-47399976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
2	chr2:47399080..47400641-chr2:47457682..47460139,2	K562	blood:
3	chr2:47399705..47406684-chr2:47448496..47456698,16	K562	blood:
4	chr2:47398506..47400133-chr2:47537850..47540802,2	K562	blood:
5	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
6	chr2:47183155..47186488-chr2:47397465..47400256,3	K562	blood:
7	chr2:47301037..47304852-chr2:47397378..47400468,3	MCF-7	breast:
8	chr2:47252232..47263251-chr2:47397787..47406051,20	MCF-7	breast:
9	chr2:47397654..47400175-chr2:47508380..47511967,3	K562	blood:
10	chr2:47241103..47242640-chr2:47398304..47400059,2	MCF-7	breast:
11	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:
12	chr2:47398263..47400819-chr2:47535902..47539310,3	MCF-7	breast:
13	chr2:47399224..47401292-chr2:47482890..47486794,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000226087	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000272814	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11125126	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs12991318	0.91[CHB][hapmap]
rs13430277	0.80[CEU][hapmap];0.80[CHB][hapmap]
rs1630239	0.82[ASN][1000 genomes]
rs1693863	0.82[ASN][1000 genomes]
rs1693864	0.87[ASN][1000 genomes]
rs1693869	0.92[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1693882	0.88[ASN][1000 genomes]
rs1723482	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1723483	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1723493	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2454082	0.91[ASN][1000 genomes]
rs2454083	0.91[ASN][1000 genomes]
rs6713934	0.82[ASN][1000 genomes]
rs6751198	0.80[ASN][1000 genomes]
rs7596698	0.81[EUR][1000 genomes]
rs7606478	0.82[ASN][1000 genomes]
rs815802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs815807	1.00[CEU][hapmap]
rs815815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs815816	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs815817	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
3	chr2:47387600-47401400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47387600-47402200	Weak transcription	Gastric	stomach
5	chr2:47387800-47402000	Weak transcription	Pancreas	Pancrea
6	chr2:47389200-47402000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:47389400-47400200	Weak transcription	Colonic Mucosa	Colon
8	chr2:47390000-47402000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:47391800-47400000	Weak transcription	Spleen	Spleen
10	chr2:47394800-47402000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:47396400-47400800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:47396600-47400000	Weak transcription	Fetal Stomach	stomach
13	chr2:47396800-47400600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:47396800-47401200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:47396800-47401200	Transcr. at gene 5' and 3'	A549	lung
16	chr2:47396800-47401200	Transcr. at gene 5' and 3'	NHLF	lung
17	chr2:47396800-47402000	Enhancers	Small Intestine	intestine
18	chr2:47396800-47402600	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr2:47397000-47400200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:47397000-47401000	Enhancers	Liver	Liver
21	chr2:47397000-47401400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:47397000-47402000	Weak transcription	Lung	lung
23	chr2:47397400-47400200	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:47397400-47400600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:47397600-47400000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:47397600-47400400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:47397600-47400400	Enhancers	Fetal Lung	lung
28	chr2:47397600-47401800	Weak transcription	Placenta	Placenta
29	chr2:47397800-47400200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:47397800-47400400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:47397800-47400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:47397800-47401400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:47398000-47400000	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:47398000-47400400	Enhancers	Fetal Heart	heart
35	chr2:47398000-47400600	Enhancers	Primary T cells from cord blood	blood
36	chr2:47398000-47401400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:47398000-47401600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:47398200-47400400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:47398200-47401400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:47398400-47400400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:47398600-47400800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:47398600-47401000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:47398800-47400200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:47398800-47400400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:47398800-47400600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:47398800-47401600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:47399000-47400400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:47399000-47401000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:47399200-47400000	Genic enhancers	Fetal Intestine Large	intestine
50	chr2:47399200-47400000	Enhancers	Fetal Kidney	kidney

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